Androgen Insensitivity Syndrome

Common Name(s)

Androgen Insensitivity Syndrome, Androgen Resistance Syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

Logo
AISDSD Support Group

The mission of the AIS/DSD Support Group for Women and Families is to provide information and support to women and children with AIS and related medical conditions and their families, and to advocate for improvements in: 1) the health care; and 2) the treatment, by both physicians and society at large, of women and children with AIS and related conditions.

Last Updated: 11 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

Logo
AISDSD Support Group

The mission of the AIS/DSD Support Group for Women and Families is to provide information and support to women and children with AIS and related medical conditions and their families, and to advocate for improvements in: 1) the health care; and 2) the treatment, by both physicians and society at large, of women and children with AIS and related conditions.

http://www.aisdsd.org

Last Updated: 11 Feb 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Androgen Insensitivity Syndrome" returned 57 free, full-text research articles on human participants. First 3 results:

A novel arg616Cys mutation in the DNA-binding domain of complete androgen insensitivity syndrome in a Chinese family.
 

Author(s): Lu Zhou, Chen-Hong Wang

Journal: Chin. Med. J.. 2013 Nov;126(21):4192-3.

 

Last Updated: 15 Nov 2013

Go To URL
Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.
 

Author(s): P Elfferich, M E van Royen, D J van de Wijngaart, J Trapman, S L S Drop, E L T van den Akker, S J Lusher, R Bosch, T Bunch, I A Hughes, A B Houtsmuller, M Cools, S M H Faradz, P H Bisschop, M C M Bunck, W Oostdijk, H T Brüggenwirth, A O Brinkmann

Journal: Sex Dev. 2013 ;7(5):223-34.

 

Androgen receptor (AR) mutations in androgen insensitivity syndrome (AIS) are associated with a variety of clinical phenotypes. The aim of the present study was to compare the molecular properties and potential pathogenic nature of 8 novel and 3 recurrent AR variants with a broad ...

Last Updated: 2 Jul 2013

Go To URL
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
 

Author(s): Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan

Journal:

 

Androgens are critical in male external genital development. Alterations in the androgen sensitivity pathway have been identified in severely undermasculinized boys, and mutations of the androgen receptor gene (AR) are usually found in partial or complete androgen insensitivity syndrome (AIS).

Last Updated: 2 May 2013

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Androgen Insensitivity Syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

Androgen insensitivity syndrome.
 

Author(s): Ieuan A Hughes, John D Davies, Trevor I Bunch, Vickie Pasterski, Kiki Mastroyannopoulou, Jane MacDougall

Journal: Lancet. 2012 Oct;380(9851):1419-28.

 

Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the ...

Last Updated: 22 Oct 2012

Go To URL
Androgen insensitivity syndrome: clinical features and molecular defects.
 

Author(s): Angeliki Galani, Sophia Kitsiou-Tzeli, Christalena Sofokleous, Emmanuel Kanavakis, Ariadni Kalpini-Mavrou

Journal: Hormones (Athens). ;7(3):217-29.

 

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and ...

Last Updated: 12 Aug 2008

Go To URL
[Androgen insensitivity syndrome].
 

Author(s): Yvonne Lundberg Giwercman, Johan Svensson

Journal: Tidsskr. Nor. Laegeforen.. 2008 Feb;128(5):581-5.

 

Androgen insensitivity is caused by mutations in the androgen receptor gene, and is a common etiological factor to ambiguous genitalia in the newborn. This article discusses the role of androgens in sex differentiation, the structure and function of the androgen receptor, the genetic ...

Last Updated: 3 Mar 2008

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.